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Consumer Preferences for the Reporting of Genetic Variants of Uncertain Significance

Smith, Nichole
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352216

Abstract Details

2012, MS, University of Cincinnati, Medicine: Genetic Counseling.
Variants of uncertain significance (VUS) are novel changes in DNA whose contribution to disease phenotype is unknown. Advances in technology, such as next generational sequencing, will result in detection of more VUS. Lack of strict guidelines for reporting of VUS by testing laboratories has created a gap between type and amount of information included in a result report and information that ordering health professionals find useful. This study sought to characterize preferences of genetics health professionals regarding reporting of genetic test results, discriminating between VUS and general (any) results, by analyzing factors relevant to perceived usefulness. A cross-sectional survey of members of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors was performed using an anonymous, self-administered questionnaire (n = 462). Clinical Significance and Resources/References components were perceived to be significantly more useful for a VUS report than a general report. Result and Test Sensitivity components were significantly more useful for a general report than a VUS report. Geneticists are significantly more likely to perform their own research than are genetic counselors (p < 0.0001) after receiving a general result report. Respondents with less post graduate years' experience were less likely to perform their own research than were respondents with more experience (p = 0.0007) for a general report, with the opposite being true for a VUS report (p = 0.0003). Respondent comments indicate not all testing laboratories are adhering to the ACMG's recommendations for reporting genetic VUS. In conclusion, recent advances in technology and an increased likelihood of identifying VUS magnify the importance of more rigorous guidelines for reporting genetic sequencing test results, to improve clinical utility and consumer understanding of genetic testing reports, thereby improving overall patient care.
Bradley Tinkle, MD PhD (Committee Chair)
Kathleen Collins, MS (Committee Member)
Kerry Shooner, MS (Committee Member)
Lisa Martin, PhD (Committee Member)
37 p.
Genetics
variants of uncertain significance; genetic test result reporting; genetic; ; ; ;

Recommended Citations

Citations

  • Smith, N. (2012). Consumer Preferences for the Reporting of Genetic Variants of Uncertain Significance [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352216

    APA Style (7th edition)

  • Smith, Nichole. Consumer Preferences for the Reporting of Genetic Variants of Uncertain Significance. 2012. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352216.

    MLA Style (8th edition)

  • Smith, Nichole. "Consumer Preferences for the Reporting of Genetic Variants of Uncertain Significance." Master's thesis, University of Cincinnati, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352216

    Chicago Manual of Style (17th edition)

ucin1337352216
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© 2012, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.